title: [A case of sitosterolemia with spastic gait due to intradural-extramedullary xanthoma].
abstract: A forty-eight-year-old woman with a 30 years history of tendinous xanthomatosis developed spastic gait and mild urinary incontinence. Myelography, metrizamide-enhanced CT and magnetic resonance image revealed multiple intradural-extramedullary tumors extending from C1 to Th7. The gait disturbance entirely disappeared by the removal of the tumors. Morphological examination of the tumors showed xanthogranulomatosis. The analysis of her sera and tumors revealed increased amount of plant sterols, especially beta-sitosterol and the diagnosis was made as beta-sitosterolemia. Tendinous xanthoma and beta-sitosterolemia were seen in 2 of 6 her brothers but none showed neurological symptoms. This is the first case of sitosterolemia with neurological complication i.e., spinal cord compression due to extramedullary sitosterolemia xanthomas.
authors.affiliation: Third Department of Medicine, Shiga University of Medical Science.
authors.forename: H
authors.initials: H
authors.lastname: Yasuda
authors.forename: I
authors.initials: I
authors.lastname: Hatanaka
authors.forename: H
authors.initials: H
authors.lastname: Hidaka
authors.forename: H
authors.initials: H
authors.lastname: Okabe
authors.forename: Y
authors.initials: Y
authors.lastname: Shigeta
mesh_terms: D005260:Female; D005684:Gait; D006099:Granuloma / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D009069:Movement Disorders / Q000209:etiology*; D012855:Sitosterols / Q000097:blood*; D013117:Spinal Cord Compression / Q000209:etiology; D013118:Spinal Cord Diseases / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D014549:Urinary Incontinence / Q000209:etiology; D014973:Xanthomatosis / Q000150:complications* / Q000175:diagnosis / Q000473:pathology
chemical_list: D012855:Sitosterols; C025473:gamma-sitosterol